Bendavid C - Search Results

1

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Brooks BP, Meck JM, Haddad BR, Bendavid C, Blain D, Toretsky JA. Brooks BP, et al. Among authors: bendavid c. BMC Med Genet. 2006 Jan 13;7:2. doi: 10.1186/1471-2350-7-2. BMC Med Genet. 2006. PMID: 16412230 Free PMC article. Review.

2

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.

Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M. Bendavid C, et al. J Med Genet. 2006 Jun;43(6):496-500. doi: 10.1136/jmg.2005.037176. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199538 Free PMC article.

3

Holoprosencephaly-Polydactyly syndrome: in search of an etiology.

Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M. Cordero DR, et al. Among authors: bendavid c. Eur J Med Genet. 2008 Mar-Apr;51(2):106-12. doi: 10.1016/j.ejmg.2007.08.004. Epub 2007 Sep 15. Eur J Med Genet. 2008. PMID: 18178536 Free PMC article.

4

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA. Bendavid C, et al. Hum Genet. 2004 Nov;115(6):510-4. doi: 10.1007/s00439-004-1170-2. Epub 2004 Sep 9. Hum Genet. 2004. PMID: 15365816

5

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V. Bendavid C, et al. Hum Genet. 2006 Mar;119(1-2):1-8. doi: 10.1007/s00439-005-0097-6. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323008

6

Haploinsufficiency of cytochrome P450 17alpha-hydroxylase/17,20 lyase (CYP17) causes infertility in male mice.

Liu Y, Yao ZX, Bendavid C, Borgmeyer C, Han Z, Cavalli LR, Chan WY, Folmer J, Zirkin BR, Haddad BR, Gallicano GI, Papadopoulos V. Liu Y, et al. Among authors: bendavid c. Mol Endocrinol. 2005 Sep;19(9):2380-9. doi: 10.1210/me.2004-0418. Epub 2005 May 12. Mol Endocrinol. 2005. PMID: 15890676

7

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. Quélin C, et al. Among authors: bendavid c. Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31. Eur J Med Genet. 2009. PMID: 19022413

8

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Levêque J, Pellerin I, Guerrier D. Bendavid C, et al. Eur J Med Genet. 2007 Jan-Feb;50(1):66-72. doi: 10.1016/j.ejmg.2006.09.003. Epub 2006 Oct 1. Eur J Med Genet. 2007. PMID: 17081814

9

Holoprosencephaly: An update on cytogenetic abnormalities.

Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V. Bendavid C, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):86-92. doi: 10.1002/ajmg.c.30250. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104602 Free article. Review.

10

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M. Roessler E, et al. Among authors: bendavid c. Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982. Hum Mutat. 2009. PMID: 19177455 Free PMC article.

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